Living with Oculocerebrodental syndrome
A rare genetic condition with cataracts present at birth, developmental delay, short stature, and tooth and skeletal differences.
Understanding Oculocerebrodental syndrome
Features include cataract from birth with later glaucoma, developmental delay, short stature, spine and limb differences, and tooth differences such as fewer teeth and enamel defects. Facial features can be coarse. Stroke, hearing loss, and calcium in the kidneys are also described. GARD lists onset as from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts from birth
- Glaucoma
- Delayed development and learning disability
- Short stature
- Tooth differences
- Calcium deposits in the kidneys (nephrocalcinosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Consider genetic testing
Changes in PIK3C2A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PIK3C2A gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cataracts, early-onset, with skeletal and dental anomalies; ocskd; oculo-cerebro-dental syndrome; oculoskeletodental syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculocerebrodental syndrome.
Explore research for Oculocerebrodental syndrome
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